Varaico: Literature-Extracted Genetic Variants

SBF2

209 papers

RefSeq Summary

This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been ...

Pfam Domains

uDENNaa 25–85UCSCuDENN domain

DENNaa 116–298UCSCDENN (AEX-3) domain

SBF2aa 530–754UCSCMyotubularin protein

GRAMaa 870–1006UCSCGRAM domain

Myotub-relatedaa 1094–1553UCSCMyotubularin-like phosphatase domain

PHaa 1776–1879UCSCPH domain

Gene Aliases

HGNC Name

SET binding factor 2

HGNC Previous Symbol

CMT4B2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_030962.4

p.L109S

c.326T>C

Surrounding Variants

1 paper

NM_030962.4

p.V106_Q111del6

c.316_332del18

1 paper

NM_030962.4

p.E99*

c.295G>T

1 paper

NM_030962.4

p.E98G

c.293A>G

1 paper

NM_030962.4

p.E131G

c.392A>G

1 paper

NM_030962.4

p.L139L

c.415T>C

2 papers

NM_030962.4

p.L139M

c.415T>A

1 paper

NM_030962.4

p.V145delFs

c.434delA

1 paper

NM_030962.4

p.L159F

c.475C>T

1 paper

NM_030962.4

p.L159R

c.476T>G

1 paper

NM_030962.4

p.S175P

c.523T>C

1 paper

NM_030962.4

p.S175F

c.524C>T

1 paper

NM_030962.4

p.L176W

c.527T>G